1.Julat Rujukan Bagi Jumlah Homosisteina Dalam Plasma Di Kalangan Kanak-Kanak Di Malaysia (Reference range for plasma total homocysteine among Malaysian’s children)
AFFANDI OMAR ; SITI ROZILAH ABDUL KADIR ; SALINA ABDUL RAHMAN ; FATIMAH DIANA AMIN NORDIN ; BALQIS KAMARUDIN ; NUR JANNAIM MUHAMAD ; ROSNANI MOHAMED ; MARLEENA MAMAT ; NOORNATISHA SALLEH ; ZABEDAH MD YUNUS ; JULAINA ABDUL JALIL
Malaysian Journal of Health Sciences 2021;19(No.2):22-28
Homocystineimia is an Inborn Errors of Metabolism (IEM) which can occur due to accumulation of homocysteine.
Homocysteine is one of the sulfur-containing amino acid with thiol group that is formed by demethylation of methionine.
Deficiency of enzymes involves in homocysteine metabolism can give rise to seven types of homocystinemia subject to
total homocysteine level. Therefore reference ranges are needed to differentiate between normal and abnormal
population as well as the type of homocystineimia depending on the enzymes defect in the pathway. Hence, homocysteine
reference ranges in children for the Malaysian population were postulated. 3 mL of blood was collected from 86 normal
individuals (52 boys and 34 girls) and then subsequently processed and analysed using High Performance Liquid
Chromatogrphy – Ion Exchange Chromatography (HPLC-IEC). The calculated mean total homocysteine for the
population was 8.1 ± 3.89 µM (95% confidence interval, l 7.3-8.9 µM). Reference range was 2.5 – 16.2 µM with lower
and upper cut-off were 1.0 µM dan 21.0 µM, respectively. The newly developed reference range of total homocysteine
for Malaysian children is able to reduce false negative cases in the laboratory.